ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825207356
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14945
ClinVar RCV Id:
RCV000016083
RCV000521190
RCV001248962
RCV002254266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000536.6:p.Ala276Asp
CA124481
NM_000545.8:c.827C>A